Variant report

Variant	esv17255
Chromosome Location	chr14:63724095-63724654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532973517	chr14:63724104-63724105	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554317859	chr14:63724117-63724118	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114406860	chr14:63724131-63724132	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184948518	chr14:63724157-63724158	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73268322	chr14:63724193-63724194	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528948575	chr14:63724215-63724216	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549024556	chr14:63724271-63724272	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189796664	chr14:63724272-63724273	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537821424	chr14:63724313-63724314	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569509716	chr14:63724338-63724339	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182286197	chr14:63724343-63724344	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534423122	chr14:63724382-63724383	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554403798	chr14:63724442-63724443	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79069963	chr14:63724492-63724493	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187702188	chr14:63724513-63724514	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543068392	chr14:63724541-63724542	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543845168	chr14:63724558-63724559	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556572516	chr14:63724611-63724612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22737080	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63676400-63733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:63700600-63732400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:63708000-63733600	Weak transcription	Left Ventricle	heart
4	chr14:63716000-63729000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr14:63716000-63754600	Weak transcription	Aorta	Aorta
6	chr14:63716800-63731400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:63717400-63730200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:63717400-63734200	Weak transcription	Fetal Lung	lung
9	chr14:63717400-63754800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:63717800-63733600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:63718800-63728200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:63720600-63725800	Strong transcription	Fetal Stomach	stomach
13	chr14:63720800-63733800	Weak transcription	NH-A	brain
14	chr14:63721000-63733600	Weak transcription	Lung	lung
15	chr14:63721200-63733600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr14:63721400-63728400	Weak transcription	Brain Anterior Caudate	brain
17	chr14:63721800-63733600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr14:63723200-63727400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:63723200-63727400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:63723400-63725400	Weak transcription	HUVEC	blood vessel
21	chr14:63723600-63732600	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:63723800-63724400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:63724000-63724200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:63724000-63724400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:63724400-63724600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:63724600-63733600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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